Mari Mori

Mari Mori's work centers on clinical and molecular genetics of rare inherited metabolic and developmental disorders, often reported as detailed patient case studies that link specific gene variants to observed symptoms (genotype-phenotype correlations). This research spans conditions such as glycogen storage disease, congenital glycosylation disorders, ciliopathies, and metabolic diseases affecting newborns and children, with an emphasis on improving diagnosis through genetic testing and newborn screening.

Publication output has been fairly steady over the past decade, averaging about 6 papers per year over the last five years, with a notable increase in 2025.

Generated by claude-sonnet-5 from public bibliographic data · Jul 20, 2026